Disease ID | Disease name | Source of annotation with DDOST | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS212065 | CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I | ClinVar, OMIM, HUMSAVAR | link to OMIM | 25 | ALG2, ALG1, ALG13, ALG3, CAD, STT3A, SRD5A3, ALG12, ALG8, DPAGT1, DDOST, ALG6, MPI, PMM2, STT3B, DOLK, MPDU1, RFT1, PGM1, ALG9, DPM1, DPM3, ALG11, DPM2, SSR4 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Protein processing in endoplasmic reticulum | hsa04141 | 5.35 |
N-Glycan biosynthesis | hsa00510 | 7.07 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Innate Immune System | R-HSA-168249 | 3.17 |
SRP-dependent cotranslational protein targeting to membrane | R-HSA-1799339 | 6.24 |
Immune System | R-HSA-168256 | 2.37 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Translation | R-HSA-72766 | 5.8 |
Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
Gene Expression | R-HSA-74160 | 2.72 |
Post-translational protein modification | R-HSA-597592 | 4.54 |
Advanced glycosylation endproduct receptor signaling | R-HSA-879415 | 9.28 |
GO term | GO ID | GO IC |
---|---|---|
protein binding | GO:0005515 | 0.46 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
oligosaccharyl transferase activity | GO:0004576 | 7.54 |
binding | GO:0005488 | 0.18 |
transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
dolichyl-diphosphooligosaccharide-protein glycotransferase activity | GO:0004579 | 7.66 |